L1287P (p.Leu1287Pro) variant of SCN1A (Nav1.1)
L1287P (p.Leu1287Pro) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE; Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
L1287P (p.Leu1287Pro) variant details
- p.Leu1287Pro
- rs121918740
- ClinGen CA285150
- ClinVar RCV000059502
- ClinVar RCV006461392
- Uncertain significance
- Early-infantile DEE; Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Uncertain significance (Generalized epilepsy with febrile seizures plus, type 2)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. (PMID 20431604)
- Cited in: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (PMID 11359211)